E33V (p.Glu33Val) variant of ALDH2 (P05091)
E33V (p.Glu33Val) in ALDH2 (P05091) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E33V (p.Glu33Val) variant details
- p.Glu33Val
- TOPMed rs1210769557
- gnomAD rs1210769557
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.10
- CADD 24.40
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available